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Updated: Jan 8, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

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普拉德-威利综合征:一种罕见的遗传疾病,具有复杂的临床表现

Dinkar Yadav1, Neha Yadav2, Neha Pruthi1

  • 1Department of Paediatrics, Post Graduate Institute of Medical Sciences (PGIMS), Rohtak, Haryana, India.

Journal of family medicine and primary care
|December 17, 2025
PubMed
概括

普拉德-威利综合征 (PWS) 是一种罕见的遗传疾病. 本案例研究详细介绍了一名12岁的女孩,由于父亲15q11-13染色体被删除而被诊断出PWS,强调了早期干预.

关键词:
认知障碍 认知障碍是一种认知障碍.异形面孔的异形面孔.肥胖 肥胖 肥胖 肥胖 肥胖 肥胖 肥胖 肥胖多吃多吃的症候群 多吃多吃多吃的症候群

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